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The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study

Background Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a deficit in gene expression on the paternal inherited chromosome 15q11.2-q13. It affects various aspects of growth and development, including feeding, cognitive function, and behavior. Early diagnosis and management of P...

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Autores principales: Ahakoud, Mohamed, Daha Belghiti, Hanae, Nedbour, Ayoub, Bouramtane, Abdelhamid, Chaouki, Sana, Bouguenouch, Laila, Ouldim, Karim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202671/
https://www.ncbi.nlm.nih.gov/pubmed/37223137
http://dx.doi.org/10.7759/cureus.37866
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author Ahakoud, Mohamed
Daha Belghiti, Hanae
Nedbour, Ayoub
Bouramtane, Abdelhamid
Chaouki, Sana
Bouguenouch, Laila
Ouldim, Karim
author_facet Ahakoud, Mohamed
Daha Belghiti, Hanae
Nedbour, Ayoub
Bouramtane, Abdelhamid
Chaouki, Sana
Bouguenouch, Laila
Ouldim, Karim
author_sort Ahakoud, Mohamed
collection PubMed
description Background Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a deficit in gene expression on the paternal inherited chromosome 15q11.2-q13. It affects various aspects of growth and development, including feeding, cognitive function, and behavior. Early diagnosis and management of PWS can significantly improve outcomes for patients and their families. Methods In this study, we analyzed a group of 29 clinically diagnosed patients suspected of PWS. All patients were referred to the medical genetics and onco-genetics service for genetic consultation and molecular analysis. We used DNA methylation analysis and fluorescence in situ hybridization (FISH) to confirm the diagnosis and identify the underlying genetic mechanisms. Results Our analysis showed that five out of seven patients (71.43%) with a positive methylation-specific PCR (MSP) had chromosomal deletion by FISH and presented major clinical signs summarized by morbid obesity in 65.21% of cases and neonatal hypotonia in 42.85% of cases. This finding indicates that paternal 15q11-q13 deletion is the most common genetic mechanism involved in PWS. Conclusion The results of this study highlight the importance of early diagnosis and molecular analysis in the management of Prader-Willi syndrome. Our findings contribute to a better understanding of the genotype-phenotype correlation in the Moroccan population and provide families with a rigorous molecular diagnosis, relevant genetic counseling, and multidisciplinary support. Further research is needed to explore the underlying mechanisms of PWS and develop effective interventions to improve outcomes for affected individuals.
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spelling pubmed-102026712023-05-23 The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study Ahakoud, Mohamed Daha Belghiti, Hanae Nedbour, Ayoub Bouramtane, Abdelhamid Chaouki, Sana Bouguenouch, Laila Ouldim, Karim Cureus Genetics Background Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a deficit in gene expression on the paternal inherited chromosome 15q11.2-q13. It affects various aspects of growth and development, including feeding, cognitive function, and behavior. Early diagnosis and management of PWS can significantly improve outcomes for patients and their families. Methods In this study, we analyzed a group of 29 clinically diagnosed patients suspected of PWS. All patients were referred to the medical genetics and onco-genetics service for genetic consultation and molecular analysis. We used DNA methylation analysis and fluorescence in situ hybridization (FISH) to confirm the diagnosis and identify the underlying genetic mechanisms. Results Our analysis showed that five out of seven patients (71.43%) with a positive methylation-specific PCR (MSP) had chromosomal deletion by FISH and presented major clinical signs summarized by morbid obesity in 65.21% of cases and neonatal hypotonia in 42.85% of cases. This finding indicates that paternal 15q11-q13 deletion is the most common genetic mechanism involved in PWS. Conclusion The results of this study highlight the importance of early diagnosis and molecular analysis in the management of Prader-Willi syndrome. Our findings contribute to a better understanding of the genotype-phenotype correlation in the Moroccan population and provide families with a rigorous molecular diagnosis, relevant genetic counseling, and multidisciplinary support. Further research is needed to explore the underlying mechanisms of PWS and develop effective interventions to improve outcomes for affected individuals. Cureus 2023-04-20 /pmc/articles/PMC10202671/ /pubmed/37223137 http://dx.doi.org/10.7759/cureus.37866 Text en Copyright © 2023, Ahakoud et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Ahakoud, Mohamed
Daha Belghiti, Hanae
Nedbour, Ayoub
Bouramtane, Abdelhamid
Chaouki, Sana
Bouguenouch, Laila
Ouldim, Karim
The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study
title The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study
title_full The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study
title_fullStr The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study
title_full_unstemmed The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study
title_short The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study
title_sort diagnosis and genetic mechanisms of prader-willi syndrome: findings from a moroccan population study
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202671/
https://www.ncbi.nlm.nih.gov/pubmed/37223137
http://dx.doi.org/10.7759/cureus.37866
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